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Article

Ocular albinism type 1: more than meets the eye.

Pigment cell research - 1 Aug 2001

Shen B, Samaraweera P, Rosenberg B, Orlow S J

Abstract excerpt

Ocular albinism type 1 (OA1) is an X-linked recessive disorder characterized by a severe reduction of visual acuity, and hypopigmentation of the retina that leads to nystagmus, strabismus, and photophobia/photodysphoria. Microscopic examination of both retinal pigment epithelium and skin melanocytes in OA1 reveals the presence of macrome-lanosomes, suggesting that the OA1 gene product plays a role in melanosome...

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Identifiers

PMID: 11549106
DOI: 10.1034/j.1600-0749.2001.140403.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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